Canonical Allele Identifier: PA2825698810
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390155
ClinVar RCV Id: RCV000441325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Val193Glu
CA16606265
NM_001130702.2:c.578T>A